Product Details

SNP ID
rs201088500
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:52550567 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTGTTGTTGGCTGCTGTATGACA[C/G]GGGGTCCAGCTGGATGTGGGCCGGG
Phenotype
MIM: 606083
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PBRM1 PubMed Links

Gene Details

Gene
PBRM1
Gene Name
polybromo 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018313.4 4955 Missense Mutation CCT,CGT P1477R NP_060783.3
XM_005265279.4 4955 Missense Mutation CCT,CGT P1599R XP_005265336.1
XM_005265280.3 4955 Missense Mutation CCT,CGT P1599R XP_005265337.1
XM_005265282.3 4955 Missense Mutation CCT,CGT P1599R XP_005265339.1
XM_005265283.3 4955 Missense Mutation CCT,CGT P1599R XP_005265340.1
XM_011533900.2 4955 Missense Mutation CCT,CGT P1620R XP_011532202.1
XM_011533902.2 4955 Missense Mutation CCT,CGT P1620R XP_011532204.1
XM_011533903.2 4955 Missense Mutation CCT,CGT P1620R XP_011532205.1
XM_017006725.1 4955 Missense Mutation CCT,CGT P1629R XP_016862214.1
XM_017006726.1 4955 Missense Mutation CCT,CGT P1629R XP_016862215.1
XM_017006727.1 4955 Missense Mutation CCT,CGT P1629R XP_016862216.1
XM_017006728.1 4955 Missense Mutation CCT,CGT P1629R XP_016862217.1
XM_017006729.1 4955 Missense Mutation CCT,CGT P1628R XP_016862218.1
XM_017006730.1 4955 Missense Mutation CCT,CGT P1626R XP_016862219.1
XM_017006731.1 4955 Missense Mutation CCT,CGT P1626R XP_016862220.1
XM_017006732.1 4955 Missense Mutation CCT,CGT P1619R XP_016862221.1
XM_017006733.1 4955 Missense Mutation CCT,CGT P1616R XP_016862222.1
XM_017006734.1 4955 Missense Mutation CCT,CGT P1616R XP_016862223.1
XM_017006735.1 4955 Missense Mutation CCT,CGT P1614R XP_016862224.1
XM_017006736.1 4955 Missense Mutation CCT,CGT P1613R XP_016862225.1
XM_017006737.1 4955 Missense Mutation CCT,CGT P1608R XP_016862226.1
XM_017006738.1 4955 Missense Mutation CCT,CGT P1608R XP_016862227.1
XM_017006739.1 4955 Missense Mutation CCT,CGT P1608R XP_016862228.1
XM_017006740.1 4955 Missense Mutation CCT,CGT P1608R XP_016862229.1
XM_017006741.1 4955 Missense Mutation CCT,CGT P1605R XP_016862230.1
XM_017006742.1 4955 Missense Mutation CCT,CGT P1605R XP_016862231.1
XM_017006743.1 4955 Missense Mutation CCT,CGT P1604R XP_016862232.1
XM_017006744.1 4955 Missense Mutation CCT,CGT P1602R XP_016862233.1
XM_017006745.1 4955 Missense Mutation CCT,CGT P1599R XP_016862234.1
XM_017006746.1 4955 Missense Mutation CCT,CGT P1599R XP_016862235.1
XM_017006747.1 4955 Missense Mutation CCT,CGT P1597R XP_016862236.1
XM_017006748.1 4955 Missense Mutation CCT,CGT P1584R XP_016862237.1
XM_017006749.1 4955 Missense Mutation CCT,CGT P1584R XP_016862238.1
XM_017006750.1 4955 Missense Mutation CCT,CGT P1584R XP_016862239.1
XM_017006751.1 4955 Missense Mutation CCT,CGT P1580R XP_016862240.1
XM_017006752.1 4955 Missense Mutation CCT,CGT P1577R XP_016862241.1
XM_017006753.1 4955 Missense Mutation CCT,CGT P1574R XP_016862242.1
XM_017006754.1 4955 Missense Mutation CCT,CGT P1568R XP_016862243.1
XM_017006755.1 4955 Missense Mutation CCT,CGT P1550R XP_016862244.1
XM_017006756.1 4955 Missense Mutation CCT,CGT P1549R XP_016862245.1
XM_017006757.1 4955 Missense Mutation CCT,CGT P1529R XP_016862246.1
XM_017006758.1 4955 Missense Mutation CCT,CGT P1529R XP_016862247.1
XM_017006759.1 4955 Missense Mutation CCT,CGT P1525R XP_016862248.1
XM_017006760.1 4955 Missense Mutation CCT,CGT P1513R XP_016862249.1
XM_017006761.1 4955 Missense Mutation CCT,CGT P1513R XP_016862250.1
XM_017006762.1 4955 Missense Mutation CCT,CGT P1512R XP_016862251.1
XM_017006763.1 4955 Missense Mutation CCT,CGT P1510R XP_016862252.1
XM_017006764.1 4955 Missense Mutation CCT,CGT P1498R XP_016862253.1
XM_017006765.1 4955 Missense Mutation CCT,CGT P1477R XP_016862254.1
XM_017006766.1 4955 Missense Mutation CCT,CGT P1473R XP_016862255.1
Gene
SMIM4
Gene Name
small integral membrane protein 4
There are no transcripts associated with this gene.

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